1915[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 57272	GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1	LOC110120974, LOC110120977 +277 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59445	GRCh38/hg38 5q15(chr5:97716206-98876426)x3	CHD1, LINC01846 +10 more	Copy number gain	See cases	GUncertain significance
Select item 438820	NM_001270.4(CHD1):c.5123G>A (p.Arg1708Gln)	CHD1 (R1708Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2275867	NM_001270.4(CHD1):c.5122C>T (p.Arg1708Trp)	CHD1 (R1796W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2529683	NM_001270.4(CHD1):c.5105A>G (p.Glu1702Gly)	CHD1 (E1702G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655602	NM_001270.4(CHD1):c.5102C>T (p.Pro1701Leu)	CHD1 (P1701L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1249419	NM_001270.4(CHD1):c.5050_5052del (p.Pro1684del)	CHD1 (P1684del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GBenign
Select item 2481548	NM_001270.4(CHD1):c.5051C>T (p.Pro1684Leu)	CHD1 (P1772L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236070	NM_001270.4(CHD1):c.5042A>G (p.Gln1681Arg)	CHD1 (Q1681R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306987	NM_001270.4(CHD1):c.5026A>G (p.Arg1676Gly)	CHD1 (R1676G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1679616	NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr)	CHD1 (R1659T +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3144084	NM_001270.4(CHD1):c.4958A>G (p.Lys1653Arg)	CHD1 (K1741R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655603	NM_001270.4(CHD1):c.4958A>C (p.Lys1653Thr)	CHD1 (K1653T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1690950	NM_001270.4(CHD1):c.4957A>G (p.Lys1653Glu)	CHD1 (K1653E +1 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 2655604	NM_001270.4(CHD1):c.4949C>T (p.Thr1650Met)	CHD1 (T1650M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2554493	NM_001270.4(CHD1):c.4931G>A (p.Arg1644Gln)	CHD1 (R1732Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264259	NM_001270.4(CHD1):c.4913G>A (p.Arg1638Gln)	CHD1 (R1726Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 635459	NM_001270.4(CHD1):c.4894C>G (p.Arg1632Gly)	CHD1 (R1632G +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1801360	NM_001270.4(CHD1):c.4886C>G (p.Ser1629Cys)	CHD1 (S1629C +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1704678	NM_001270.4(CHD1):c.4880C>T (p.Ser1627Phe)	CHD1 (S1627F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 787038	NM_001270.4(CHD1):c.4855T>C (p.Leu1619=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2655605	NM_001270.4(CHD1):c.4854T>C (p.Asn1618=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2504896	NM_001270.4(CHD1):c.4850C>T (p.Ser1617Leu)	CHD1 (S1617L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1213798	NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter)	CHD1 (S1617* +1 more)	Single nucleotide variant (nonsense +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027857	NM_001270.4(CHD1):c.4792T>C (p.Tyr1598His)	CHD1 (Y1598H +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2664845	NM_001270.4(CHD1):c.4760A>G (p.Asp1587Gly)	CHD1 (D1587G +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439960	NM_001270.4(CHD1):c.4753C>T (p.His1585Tyr)	CHD1 (H1585Y +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2655606	NM_001270.4(CHD1):c.4741A>G (p.Asn1581Asp)	CHD1 (N1581D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582297	NM_001270.4(CHD1):c.4712C>G (p.Ser1571Cys)	CHD1 (S1571C +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2429719	NM_001270.4(CHD1):c.4706G>A (p.Ser1569Asn)	CHD1 (S1569N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357215	NM_001270.4(CHD1):c.4692T>G (p.Asp1564Glu)	CHD1 (D1564E +1 more)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GUncertain significance
Select item 2681720	NM_001270.4(CHD1):c.4684C>T (p.Gln1562Ter)	CHD1 (Q1562* +1 more)	Single nucleotide variant (nonsense +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2655607	NM_001270.4(CHD1):c.4681C>T (p.His1561Tyr)	CHD1 (H1561Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2409802	NM_001270.4(CHD1):c.4679G>A (p.Arg1560Gln)	CHD1 (R1648Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3266825	NM_001270.4(CHD1):c.4656G>T (p.Gln1552His)	CHD1 (Q1640H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2439963	NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)	CHD1 (H1549P +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2228895	NM_001270.4(CHD1):c.4641T>A (p.Asp1547Glu)	CHD1 (D1635E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3345749	NM_001270.4(CHD1):c.4623G>C (p.Arg1541Ser)	CHD1 (R1541S +1 more)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GUncertain significance
Select item 2205191	NM_001270.4(CHD1):c.4609G>A (p.Asp1537Asn)	CHD1 (D1625N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394573	NM_001270.4(CHD1):c.4579G>A (p.Val1527Met)	CHD1 (V1527M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2629580	NM_001270.4(CHD1):c.4577-7C>A	CHD1	Single nucleotide variant (intron variant)	CHD1-related disorder	GUncertain significance
Select item 2663747	NM_001270.4(CHD1):c.4576+5G>A	CHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2682249	NM_001270.4(CHD1):c.4574C>T (p.Pro1525Leu)	CHD1 (P1525L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035532	NM_001270.4(CHD1):c.4562T>C (p.Val1521Ala)	CHD1 (V1521A +1 more)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GLikely benign
Select item 2439961	NM_001270.4(CHD1):c.4552A>C (p.Asn1518His)	CHD1 (N1518H +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027856	NM_001270.4(CHD1):c.4551G>T (p.Leu1517Phe)	CHD1 (L1517F +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3058813	NM_001270.4(CHD1):c.4535A>G (p.Asp1512Gly)	CHD1 (D1512G +1 more)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GLikely benign
Select item 758926	NM_001270.4(CHD1):c.4512G>A (p.Arg1504=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3363669	NM_001270.4(CHD1):c.4496A>T (p.His1499Leu)	CHD1 (H1499L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2602223	NM_001270.4(CHD1):c.4465G>A (p.Asp1489Asn)	CHD1 (D1489N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1031944	NM_001270.4(CHD1):c.4427+17T>G	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2663427	NM_001270.4(CHD1):c.4402C>A (p.Pro1468Thr)	CHD1 (P1468T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2372196	NM_001270.4(CHD1):c.4399A>G (p.Asn1467Asp)	CHD1 (N1467D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1207395	NM_001270.4(CHD1):c.4388_4389del (p.Lys1463fs)	CHD1 (K1463fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3068302	NM_001270.4(CHD1):c.4385T>A (p.Leu1462Gln)	CHD1 (L1462Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2487593	NM_001270.4(CHD1):c.4370A>G (p.His1457Arg)	CHD1 (H1457R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579614	NM_001270.4(CHD1):c.4343G>C (p.Arg1448Thr)	CHD1 (R1448T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702800	NM_001270.4(CHD1):c.4298G>A (p.Arg1433Lys)	CHD1 (R1433K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662154	NM_001270.4(CHD1):c.4294G>C (p.Asp1432His)	CHD1 (D1432H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1189673	NM_001270.4(CHD1):c.4289A>G (p.Gln1430Arg)	CHD1 (Q1430R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3144083	NM_001270.4(CHD1):c.4224G>C (p.Glu1408Asp)	CHD1 (E1496D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2681719	NM_001270.4(CHD1):c.4221A>G (p.Glu1407=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1810068	NM_001270.4(CHD1):c.4199_4203del (p.Val1400fs)	CHD1 (V1400fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2655608	NM_001270.4(CHD1):c.4194A>G (p.Glu1398=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2673017	NM_001270.4(CHD1):c.4182G>A (p.Thr1394=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3144082	NM_001270.4(CHD1):c.4177A>G (p.Ile1393Val)	CHD1 (I1481V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1712704	NM_001270.4(CHD1):c.4132A>G (p.Arg1378Gly)	CHD1 (R1378G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2673018	NM_001270.4(CHD1):c.4067CTC[1] (p.Pro1357del)	CHD1 (P1357del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 3266826	NM_001270.4(CHD1):c.4070C>G (p.Pro1357Arg)	CHD1 (P1357R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 771152	NM_001270.4(CHD1):c.4033A>G (p.Ile1345Val)	CHD1 (I1345V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1712041	NM_001270.4(CHD1):c.4017T>G (p.Asn1339Lys)	CHD1 (N1339K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3053862	NM_001270.4(CHD1):c.4008T>G (p.Ala1336=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	CHD1-related disorder	GLikely benign
Select item 1341810	NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg)	CHD1 (K1333R)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome +1 more	GUncertain significance
Select item 2655609	NM_001270.4(CHD1):c.3993G>A (p.Arg1331=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662880	NM_001270.4(CHD1):c.3980G>C (p.Gly1327Ala)	CHD1 (G1327A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2412987	NM_001270.4(CHD1):c.3978+3_3978+6del	CHD1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2439953	NM_001270.4(CHD1):c.3941G>T (p.Ser1314Ile)	CHD1 (S1314I)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2673019	NM_001270.4(CHD1):c.3930C>A (p.Ile1310=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2655610	NM_001270.4(CHD1):c.3921C>T (p.Asp1307=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2533528	NM_001270.4(CHD1):c.3917C>G (p.Ala1306Gly)	CHD1 (A1306G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580388	NM_001270.4(CHD1):c.3907C>T (p.Gln1303Ter)	CHD1 (Q1303*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1334519	NM_001270.4(CHD1):c.3834G>A (p.Met1278Ile)	CHD1 (M1278I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703283	NM_001270.4(CHD1):c.3798T>G (p.Tyr1266Ter)	CHD1 (Y1266*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1306295	NM_001270.4(CHD1):c.3788T>C (p.Ile1263Thr)	CHD1 (I1263T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3144081	NM_001270.4(CHD1):c.3739G>A (p.Ala1247Thr)	CHD1 (A1247T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701838	NM_001270.4(CHD1):c.3737C>T (p.Ala1246Val)	CHD1 (A1246V)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3255199	NM_001270.4(CHD1):c.3608G>A (p.Arg1203Gln)	CHD1 (R1203Q)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2655611	NM_001270.4(CHD1):c.3582C>T (p.Leu1194=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627346	NM_001270.4(CHD1):c.3575G>A (p.Gly1192Asp)	CHD1 (G1192D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655612	NM_001270.4(CHD1):c.3572-4C>A	CHD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1699377	NM_001270.4(CHD1):c.3571+5C>T	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1805196	NM_001270.4(CHD1):c.3547A>G (p.Ser1183Gly)	CHD1 (S1183G)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance

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